中国男科学杂志
中國男科學雜誌
중국남과학잡지
CHINESE JOURNAL OF ANDROLOGY
2014年
5期
15-19
,共5页
李琦%欧光鑫%杨学习%余庆锋%叶禄伟%毛向明
李琦%歐光鑫%楊學習%餘慶鋒%葉祿偉%毛嚮明
리기%구광흠%양학습%여경봉%협록위%모향명
弱精子症%DNA甲基转移酶%多态性, 单核苷酸%精子能动性%汉族
弱精子癥%DNA甲基轉移酶%多態性, 單覈苷痠%精子能動性%漢族
약정자증%DNA갑기전이매%다태성, 단핵감산%정자능동성%한족
asthenozoospermia%DNA methyltransferase%polymorphism,single nucleotide%sperm motility%Han nationality
目的：探讨DNMT 基因（DNA methyltransferase）单核苷酸多态性（SNP）与弱精子症男性不育的关系。方法本研究检测了中国南方人群中DNMT1（rs2114724, rs2228611, rs2228612, rs8101866, rs16999593）, DNMT2（rs11254413），DNMT3A （rs1550117, rs11887120, rs13420827, rs13428812, rs6733301）, DNMT3B （rs2424908,rs2424913）和DNMT3L （rs113593938）14个SNPs与弱精子症的相关性。运用Sequenom MALDI-TOF-MS 平台技术对特发性弱精子症不育患者（病例组，n=195）和正常精子活力男性（对照组，n=184）精液样本DNA进行基因分型。通过遗传平衡检验（Hardy-Weinberg Equilibrium test, HWE）样本结果，卡方检验和logistic回归分析所有基因型分布和等位基因频率。结果这些检测的SNPs中，DNMT3A基因rs13428812位点与弱精子症相关（OR=1.54；95%CI：1.02-2.13； P=0.039）。其余位点未检查出与弱精子症的相关性。结论 DNMT3A基因rs13428812位点可能与弱精子症密切相关，但是机制尚不明确。
目的：探討DNMT 基因（DNA methyltransferase）單覈苷痠多態性（SNP）與弱精子癥男性不育的關繫。方法本研究檢測瞭中國南方人群中DNMT1（rs2114724, rs2228611, rs2228612, rs8101866, rs16999593）, DNMT2（rs11254413），DNMT3A （rs1550117, rs11887120, rs13420827, rs13428812, rs6733301）, DNMT3B （rs2424908,rs2424913）和DNMT3L （rs113593938）14箇SNPs與弱精子癥的相關性。運用Sequenom MALDI-TOF-MS 平檯技術對特髮性弱精子癥不育患者（病例組，n=195）和正常精子活力男性（對照組，n=184）精液樣本DNA進行基因分型。通過遺傳平衡檢驗（Hardy-Weinberg Equilibrium test, HWE）樣本結果，卡方檢驗和logistic迴歸分析所有基因型分佈和等位基因頻率。結果這些檢測的SNPs中，DNMT3A基因rs13428812位點與弱精子癥相關（OR=1.54；95%CI：1.02-2.13； P=0.039）。其餘位點未檢查齣與弱精子癥的相關性。結論 DNMT3A基因rs13428812位點可能與弱精子癥密切相關，但是機製尚不明確。
목적：탐토DNMT 기인（DNA methyltransferase）단핵감산다태성（SNP）여약정자증남성불육적관계。방법본연구검측료중국남방인군중DNMT1（rs2114724, rs2228611, rs2228612, rs8101866, rs16999593）, DNMT2（rs11254413），DNMT3A （rs1550117, rs11887120, rs13420827, rs13428812, rs6733301）, DNMT3B （rs2424908,rs2424913）화DNMT3L （rs113593938）14개SNPs여약정자증적상관성。운용Sequenom MALDI-TOF-MS 평태기술대특발성약정자증불육환자（병례조，n=195）화정상정자활력남성（대조조，n=184）정액양본DNA진행기인분형。통과유전평형검험（Hardy-Weinberg Equilibrium test, HWE）양본결과，잡방검험화logistic회귀분석소유기인형분포화등위기인빈솔。결과저사검측적SNPs중，DNMT3A기인rs13428812위점여약정자증상관（OR=1.54；95%CI：1.02-2.13； P=0.039）。기여위점미검사출여약정자증적상관성。결론 DNMT3A기인rs13428812위점가능여약정자증밀절상관，단시궤제상불명학。
Objective To investigate the association between DNMT gene polymorphism and asthenozoospermia. Methods The associations of 14 single nucleotide polymorphisms (SNPs) from DNMT1 (rs2114724, rs2228611, rs2228612, rs8101866, rs16999593), DNMT2 (rs11254413), DNMT3A (rs1550117, rs11887120, rs13420827, rs13428812, rs6733301), DNMT3B (rs2424908, rs2424913) and DNMT3L (rs113593938) with asthenozoospermia in the population of South China were assessed in the study. The SNPs genotyping was carried out in 195 idiopathic asthenospermia patients and 184 age-matched healthy volunteers using the Sequenom MALDI-TOF-MS platform. After HWE, the genotype and allele frequencies were calculated and analyzed with Chi-square test and logistic regression. Results Among these SNPs, rs13428812 in DNMT3A was significantly associated with increased asthenozoospermia risk (odds ratio [OR], 1.54; 95%confidence interval [95%CI], 1.02-2.13; P = 0.039). However, no other associations were found. Conclution These results indicate that DNMT3A (rs13428812) may contribute to asthenozoospermia, but the detail mechanisms were still unknown.
